Alpha-1 Carrier Genomics Study

Completed

Conditions studied: Alpha-1 Antitrypsin Deficiency, Emphysema, COPD, Smoking

In brief

The goal of this study is to better understand why some Alpha-1 genotype MZ (PiMZ) individuals develop chronic obstructive pulmonary disease (COPD) while others do not. This study will examine portions of the Alpha-1 gene that are not routinely tested to determine whether other changes in this gene correlate with development and progression of COPD. Participation involves responding to questionnaires about lung health and history, and performing an at-home finger stick to obtain blood spots using a test kit that is mailed. The blood provided will be used for genetic testing and correlation of results with COPD history. Participants will receive their results and access to genetic counseling at the conclusion of the study.

Key facts

Study ID

NCT02810327

Run by

Medical University of South Carolina

People needed

117

Starts

2015-02-01

Expected to finish

2017-04-01

Last updated by the study team

2019-07-22

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Signed informed consent
• PiMZ individuals who fall into the lower quartile of AAT levels.

You may not qualify if…

• Age <18 years
• Known homozygous or compound heterozygous classic severe AATD (e.g. PiSZ, ZZ, Znull)

Where it is running

• Medical University of South Carolina. Division of Pulmonary and Critical Care Medicine — Charleston, South Carolina, United States

Full record on ClinicalTrials.gov

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